| Letter: Progeria in twins. |
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| Prenatal Diagnosis and Selective Abortion |
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| Tetraploidy in a liveborn infant. |
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| Risks of miscarriage after amniocentesis. |
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| Familial essential ("benign") chorea. |
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| Discordance for Cornelia de Lange syndrome in twins. |
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| The de Lange syndrome in one of twins. |
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| Chromosomal Variation in Man. A Catalog of Chromosomal Variants and Anomalies |
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| Scalp hair patterns in mental subnormality. |
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| Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I. |
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| Differential expression of salivary (Amy1) and pancreatic (Amy2) human amylase loci in prenatal and postnatal development. |
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| Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. |
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| Simultaneous G and C banding of human chromosomes. |
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| Topographic approach for analysis of palm crease variants. |
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| Further studies on the genetic heterogeneity of cebocephaly. |
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| 46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency. |
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| Age of onset in Huntington's disease: lack of parental age effect. |
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| Familial Ebstein's anomaly. |
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| Aspects of pre-eclamptic toxaemia of pregnancy, consanguinity, twinning in Ankara. |
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| Blood groups and other polymorphisms in multiple sclerosis |
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| E1j, a quantitative variant at cholinesterase locus 1: immunological evidence. |
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| A probable case of mutation in Huntington's disease. |
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| Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. |
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| Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease. |
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| Trisomy 13 in a female over 5 years of age. |
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| Familial ureteric bud anomalies. |
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| Molecular Variants in Disease (Symposium organized by The Royal College of Pathologists delivered in London in February 1974) |
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| Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells. |
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| Immunogenetic factors in aetiology of pre-eclampsia/eclampsia (gestosis). |
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| X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. |
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| Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. |
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| Pterygium syndrome. |
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| Medical Genetics: Principles and Practice |
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| Diaphragmatic hernia in the south-west of England. |
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| Pfeiffer syndrome: report of a family and review of the literature. |
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| X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. |
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| The Principles of Human Biochemical Genetics, 2nd ed |
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| Genetic polymorphism and interethnic variability of plasma paroxonase activity. |
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| An unusual family of benign "X" linked muscular dystrophy with cardiac involvement. |
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| Association of D/D translocations with fetal wastage and aneuploidy. A report of four families. |
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| Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein. |
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| Genetic diversity among Australian Aborigines. (Australian Aboriginal Studies Research and Regional Studies No. 3.) |
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| A search for linkage in cystic fibrosis. |
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| Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. |
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| Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18. |
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| Harold Cummins (1894--1976). |
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| Polymorphic acetylation of nitrazepam. |
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| Consanguinity and familial mental retardation. |
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| Behaviour of cell cultures from human amniotic fluid. |
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| 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ. |
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| Monozygotic twins discordant for sex. |
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| An XX female with sexual infantilism, absent gonads, and lack of Mullerian ducts. |
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| Further observations on the Birmingham chimaera. |
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| A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+). |
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| Trigonocephaly and associated minor anomalies in mother and son. |
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| Congenital malformations of the central nervous system in spontaneous abortions. |
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| A family of juvenile proximal spinal muscular atrophy with dominant inheritance. |
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| Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. |
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| Pre-eclampsia/eclampsia in twin pregnancies. |
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| Pseudohermaphroditism due to XY gonadal absence syndrome. |
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| Congenital malformations associated with anencephaly and iniencephaly. |
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| Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. |
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| Genetic analyses of pyloric stenosis suggesting a specific maternal effect. |
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| Alkaline phosphatase activity in cultured skin fibroblasts from fibrodysplasia ossificans progressiva. |
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| Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome. |
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| Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man. |
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| A giant short arm of no. 21 chromosome in mother of 21/21 translocation mongol. |
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✓ |
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mongol |
| Infantile cystinosis in France: genetics, incidence, geographic distribution. |
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| Lowe's syndrome: identification of carriers by lens examination. |
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| Congenital scalp defects with distal limb anomalies: Report of a family |
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| Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family. |
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| Scrapie: a review of its relation to human disease and ageing. |
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| Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. |
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| Levels of alpha-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects. |
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| Renal function studies in an infant with 4p (-) syndrome. |
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| A case of partial trisomy 3q |
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| Partial trisomy D: a diagnostic and cytogenetic dilemma. |
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| The Gardner syndrome: increased tetraploidy in cultured skin fibroblast. |
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| Letter: Cerebral gigantism. |
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| Letter: Diagnositc problems in cerebral gigantism. |
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| Absence of distal interphalangeal creases of fingers with flexion limitation. |
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| Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes, 4th ed |
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| Prenatal diagnosis of genetic disorders. |
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| Trisomy 8 restricted to cultured fibroblasts. |
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| Pure partial trisomy for long arm of chromosome 9. |
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| Haemoglobin, Isoenzymes and Tissue Differentiation |
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| Syndrome designations. |
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| Chronic spinal muscular atrophy of facioscapulohumeral type. |
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| Chromosome survey of total population of mentally subnormal in North-East of Scotland. |
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| Multiple congenital defects associated with trisomy for long arm of No. 4. |
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| Spinal dysraphism: genetic relation to neural tube malformations. |
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| Structure and inheritance of some heterozygous Robertsonian translocation in man. |
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| Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups. |
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| Gardner's syndrome and steatocystoma multiplex. Two unusual genetically determined conditions occurring in same patient. |
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| Chromosome Variations in Human Evolution |
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| New Chromosomal and Malformation Syndromes |
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| Familial Polyposis Coli. Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment |
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| Handbook of Hemophilia, Parts I and II |
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| Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia. |
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| Dicentric X isochromosomes in man. |
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| Larsen syndrome in two generations of an Italian family. |
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✓ |
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Italian |
| Linkage relationships between beta- and delta-structural loci and African forms of beta thalassaemia. |
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| New allele at cholinesterase locus 1. |
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| Prenatal diagnosis of Wolman's disease. |
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| Familial 'partial 9p' trisomy: six cases and four carriers in three generations. |
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| Letter: Chromosome abnormalities in Southwest American Indian patients. |
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✓ |
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American Indian |
| Genetic markers in atherosclerosis: a review. |
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| The mucopolysaccharidoses. |
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| X-linked anhidrotic ectodermal dysplasia with some unusual features. |
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| Partial trisomy 9 with resemblance to Coffin-Siris syndrome. |
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| Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism |
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| Genetics and Psychopharmacology. (Modern Problems of Pharmacopsychiatry Vol. 10.) |
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| Haemoglobin LeporeBoston in a Turkish family. |
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✓ |
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Turkish |
| Chromosome Hierarchy. An Introduction to the Biology of the Chromosome |
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| Human Malformations. British Medical Bulletin. Vol. 32, No. 1 |
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| A family study of coarctation of the aorta. |
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| Pyloric stenosis in the Oxford Record Linkage Study area. |
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| Atypical serum cholinesterase in a family with congenital distichiasis. |
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| Triple X female and Turner's syndrome offspring. |
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| Confirmation of trisomy 22 by trypsin-giemsa staining. |
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| A case of twin chimerism. |
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| A case of ring chromosome. |
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| A note on the inheritance of the hereditary persistence of fetal haemoglobin and the delta-chain variant Hb-A2'. |
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| Classification and relationships of induced chromosomal structual changes. |
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| The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature. |
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| Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndr |
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| Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. |
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| Non-disjunction of an unusual X chromosome. |
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| Genetic Forms of Hypogonadism |
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| Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. |
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| Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. |
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| Haemoglobin E Saskatoon beta 22 Glu replaced by Lys in the Shetland Islands. |
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